Patterson pseudoleprechaunism syndrome
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Patterson syndrome, also called pseudoleprechaunism, is an extremely rare syndrome, first mistaken as
Donohue Syndrome Donohue syndrome (also known as leprechaunism) is an extremely rare and severe genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monoge ...
(also known as
Leprechaunism Donohue syndrome (also known as leprechaunism) is an extremely rare and severe genetic disorder. ''Leprechaunism'' derives its name from the hallmark elvish features (small stature, bulging eyes, thick lips, and upturned nostrils) exhibited by the ...
). It is named for Dr. Joseph Hanan Patterson. It was described by Patterson and Watkins in 1962. The pathogenesis and cause of the Patterson syndrome was unknown until 1981.


Signs and symptoms

Patterson syndrome is characterized by the patient's having an unusual facial look, similar to that caused by Leprechaunism. It primarily affects the connective tissue and the neuroendocrine system, giving rise to bronzed hyperpigmentation,
cutis laxa Cutis laxa or pachydermatocele is a group of rare connective tissue disorders in which the skin Skin is the layer of usually soft, flexible outer tissue covering the body of a vertebrate animal, with three main functions: protection, regulat ...
of the hands and feet, bodily disproportion,
intellectual disability Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by signific ...
, and major bony deformities.
Radiograph Radiography is an imaging technology, imaging technique using X-rays, gamma rays, or similar ionizing radiation and non-ionizing radiation to view the internal form of an object. Applications of radiography include medical radiography ("diagnos ...
s reveal a characteristic generalised skeletal
dysplasia Dysplasia is any of various types of abnormal growth or development of cells (microscopic scale) or organs (macroscopic scale), and the abnormal histology or anatomical structure(s) resulting from such growth. Dysplasias on a mainly microscopic ...
. It comprises
endocrine The endocrine system is a messenger system comprising feedback loops of the hormone A hormone (from the Ancient Greek, Greek participle , "setting in motion") is a class of cell signaling, signaling molecules in multicellular organisms that ...
abnormality, hyperadrenocorticism, cushingoid features, and
diabetes mellitus Diabetes, also known as diabetes mellitus, is a group of metabolic disorders characterized by a hyperglycemia, high blood sugar level (hyperglycemia) over a prolonged period of time. Symptoms often include frequent urination, Polydipsia, increase ...
. One other case has shown premature
adrenarche Adrenarche is an early stage in sexual maturation that happens in some higher primate Primates are a diverse order (biology), order of mammals. They are divided into the Strepsirrhini, strepsirrhines, which include the lemurs, galagos, and ...
.


Cause


Diagnosis


References


External links

Congenital disorders Genetic disorders with OMIM but no gene Rare syndromes Syndromes with intellectual disability Syndromes affecting the endocrine system {{genetic-disorder-stub